ClinVar Miner

Variants studied for juvenile-onset Parkinson disease

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
51 28 530 455 77 12 1077

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP13A2 41 25 429 382 50 3 863
DNAJC6 9 3 89 69 27 9 197
ATP13A2, LOC129929540 0 0 5 4 0 0 9
PRKN 0 0 5 0 0 0 5
PACRG, PRKN 0 0 1 0 0 0 1
PARK7 0 0 1 0 0 0 1
PARK7, TNFRSF9 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 14 448 433 70 0 999
Illumina Laboratory Services, Illumina 0 1 87 12 21 0 121
Genome-Nilou Lab 1 0 13 5 22 0 41
Fulgent Genetics, Fulgent Genetics 1 3 27 8 1 0 40
OMIM 13 0 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 4 0 10
Baylor Genetics 2 2 5 0 0 0 9
GeneReviews 0 0 0 0 0 9 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Mendelics 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 1 0 0 0 2
3billion 1 0 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 1

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